HJV

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]

Full Name

hemojuvelin BMP co-receptor

Function

Acts as a bone morphogenetic protein (BMP) coreceptor (PubMed:18976966).

Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis (PubMed:18976966).

Biological Process

Activin receptor signaling pathway Source: BHF-UCL
BMP signaling pathway Source: BHF-UCL
Cellular iron ion homeostasis Source: BHF-UCL
Cellular response to BMP stimulus Source: BHF-UCL
Iron ion homeostasis Source: MGI
Negative regulation of BMP signaling pathway Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Protein autoprocessing Source: BHF-UCL

Cellular Location

Cell membrane. Also released in the extracellular space.

Involvement in disease

Hemochromatosis 2A (HFE2A):
A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.

PTM

Autocatalytically cleaved at low pH; the two chains remain linked via two disulfide bonds (PubMed:25156943). Also proteolytically processed by TMPRSS6, several fragments being released in the extracellular space; regulates HJV activity in BMP signaling and thefore iron homeostasis (PubMed:18976966, PubMed:25156943).